这个描述是关于使用CRISPR/Cas9技术,通过sgRNA和ssODN模板,将酪氨酸(Trp)的443位点(密码子TAT)替换为天冬氨酸(Asp)(c.1327T>A,p.Y443N)。这个变异等同于人类中与多发性骨融合症(SYNS)相关的p.Tyr444Asn变异位点。参考文献为J:335484。

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
C57BL/6
Endonuclease-mediated
单点
--
1
10
1

Phenotypes

Legend:
hm: homozygous
ht: heterozygous
cn: conditional genotype
cx: complex: > 1 genome feature
tg: involves transgenes
ot: other: hemizygous, indeterminate,...
(F): Female
(M): Male
phenotype observed
N: normal phenotype
(#): related diseases count
Phenotypes:
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Phenotypes

References Literature

Title
PMID
Journal
Year
IF
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